DAXX (death domain associated protein)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1616
Gene name Death domain associated protein
Gene symbol DAXX
Synonyms (NCBI Gene)
BING2DAP6EAP1SMIM40
Chromosome 6
Chromosome location 6p21.32
Summary This gene encodes a multifunctional protein that resides in multiple locations in the nucleus and in the cytoplasm. It interacts with a wide variety of proteins, such as apoptosis antigen Fas, centromere protein C, and transcription factor erythroblastosi
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs1359674497 TT>-,T Likely-pathogenic Frameshift variant, coding sequence variant
rs1554282793 G>A Likely-pathogenic Missense variant, coding sequence variant, intron variant
rs1554282803 TGAGCCGCTCAATGCGCCTGTTAA>- Likely-pathogenic Coding sequence variant, inframe deletion, intron variant
rs1554283140 AG>- Likely-pathogenic Coding sequence variant, stop gained, intron variant
miRNA miRNA information provided by mirtarbase database.
5
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT005327 hsa-miR-21-5p Luciferase reporter assayqRT-PCRWestern blot 18829576
MIRT046750 hsa-miR-222-3p CLASH 23622248
MIRT923306 hsa-miR-409-3p CLIP-seq
MIRT923307 hsa-miR-4477a CLIP-seq
MIRT923308 hsa-miR-4652-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (64)
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IDA 10504293
GO:0000775 Component Chromosome, centromeric region IEA
GO:0002039 Function P53 binding IPI 16845383
GO:0003713 Function Transcription coactivator activity IBA
GO:0003713 Function Transcription coactivator activity IDA 15016915
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
603186 2681 ENSG00000204209
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UER7
Protein name Death domain-associated protein 6 (Daxx) (hDaxx) (ETS1-associated protein 1) (EAP1) (Fas death domain-associated protein)
Protein function Transcription corepressor known to repress transcriptional potential of several sumoylated transcription factors. Down-regulates basal and activated transcription. Its transcription repressor activity is modulated by recruiting it to subnuclear
PDB 2KQS , 2KZS , 2KZU , 4H9N , 4H9O , 4H9P , 4H9Q , 4H9R , 4H9S , 4HGA , 5GRQ , 5KDM , 5Y18 , 5Y6O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03344 Daxx 48 → 146 Daxx N-terminal Rassf1C-interacting domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence 
MATANSIIVLDDDDEDEAAAQPGPSHPLPNAASPGAEAPSSSEPHGARGSSSSGGKKCYK
LENEKLFEEFLELCKMQTADHPEVVPFLYNRQQRAHSLFLASAEFCNILSRVLSRARSRP
AKLYVYINELCTVLKAHSAKKKLNLAPAATTSNEPSGNNPPTHLSLDPTNAENTASQSPR
TRGSRRQIQRLEQLLALYVAEIRRLQEKELDLSELDDPDSAYLQEARLKRKLIRLFGRLC
ELKDCSSLTGRVIEQRIPYRGTRYPEVNRRIERLINKPGPDTFPDYGDVLRAVEKAAARH
SLGLPRQQLQLMAQDAFRDVGIRLQERRHLDLIYNFGCHLTDDYRPGVDPALSDPVLARR
LRENRSLAMSRLDEVISKYAMLQDKSEEGERKKRRARLQGTSSHSADTPEASLDSGEGPS
GMASQGCPSASRAETDDEDDEESDEEEEEEEEEEEEEATDSEEEEDLEQMQEGQEDDEEE
DEEEEAAAGKDGDKSPMSSLQISNEKNLEPGKQISRSSGEQQNKGRIVSPSLLSEEPLAP
SSIDAESNGEQPEELTLEEESPVSQLFELEIEALPLDTPSSVETDISSSRKQSEEPFTTV
LENGAGMVSSTSFNGGVSPHNWGDSGPPCKKSRKEKKQTGSGPLGNSYVERQRSVHEKNG
KKICTLPSPPSPLASLAPVADSSTRVDSPSHGLVTSSLCIPSPARLSQTPHSQPPRPGTC
KTSVATQCDPEEIIVLSDSD
Sequence length 740
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  MAPK signaling pathway
Apoptosis
Parkinson disease
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases
Herpes simplex virus 1 infection 		  SUMOylation of transcription cofactors
Regulation of TP53 Degradation
HCMV Early Events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (2)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Neuroendocrine pancreatic tumor - ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (129)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 24200965, 29491153
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 31374064
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical carcinoma Adrenocortical carcinoma CTD_human_DG 24747642
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 25078331 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha Thalassemia Alpha thalassemia Pubtator 29669917 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha-Thalassemia alpha Thalassemia BEFREE 27578458, 31760651
★★★★★
★☆☆☆☆
Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED alpha-Thalassemia Mental Retardation Syndrome, X-Linked BEFREE 21252315, 23530248, 25229770, 25310565, 26022452, 26026117, 26190196, 26428317, 27456058, 28371511, 28741530, 29486199, 29669917, 29903771, 30423196
View all (2 more)
★★★★★
★☆☆☆☆
Found in Text Mining only
alpha^+^ Thalassemia alpha Thalassemia BEFREE 27578458, 31760651
★★★★★
★☆☆☆☆
Found in Text Mining only
Alternating hemiplegia of childhood Alternating hemiplegia of childhood Pubtator 26891131, 27578458, 27663587, 28115389, 30423196, 35227290 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only